Supplementary Reference List for Table 3
Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, et al. A homozygous
mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I
(MOPD I) with associated pigmentary disorder. Am J Med Genet A 2011;155A:2885-96.
Abouzeid H, Youssef MA, ElShakankiri N, Hauser P, Munier FL, Schorderet DF. PAX6 aniridia and
interhemispheric brain anomalies.Mol Vis 2009;15:2074-83.
Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, et al. AMPD2 Regulates GTP Synthesis
and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder. Cell 2013a;154:50517.
Akizu N, Shembesh N, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki M, et al. Whole-exome sequencing
identifies mutated C12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet
2013b;92:392-400.
Al-Owain M, Al-Hashem A, Al-Muhaizea M, Humaidan H, Al-Hindi H, Al-Homoud I, et al. Vici
syndrome associated with unilateral lung hypoplasia and myopathy. Am J Med Genet A
2010;152A:1849-53.
Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, et al. Perlman syndrome:
report, prenatal findings and review. Am J Med Genet A 2008;146A:2532-7.
Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, et al. Mutations of the catalytic
subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet 2005;37:221-3.
Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM, et al. Human mutations in NDE1
cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet 2011;88:536-47.
Alrashdi I, Barker R, Patton MA. Chudley-McCullough syndrome: another report and a brief review of
the literature. Clin Dysmorphol 2011;20:107-10.
Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, et al. Large-scale deletions and
SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline
structures. Am J Hum Genet 2001;69:1370-7.
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, et al. FOXG1 is
responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008;83:89-93.
Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, et al. Mutations in the gene
encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat
Genet 2007;39:882-8.
Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA, et al. Germline mutations in DIS3L2
cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet 2012;44:27784.
Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, et al. The Meckel-Gruber
syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 2007;80:186-94.
Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, et al. The essential role of
centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet 2011;88:523-35.
Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, et al. Auditory
interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging
abnormalities in children with congenital aniridia due to PAX6 mutations. Arch Pediatr Adolesc Med
2007;161:463-9.
Beck KD, Powell-Braxton L, Widmer HR, Valverde J, Hefti F. Igf1 gene disruption results in reduced
brain size, CNS hypomyelination, and loss of hippocampal granule and striatal parvalbumincontaining neurons. Neuron 1995;14:717-30.
Bedeschi MF, Bonaglia MC, Grasso R, Pellegri A, Garghentino RR, Battaglia MA, et al. Agenesis of the
corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol. 2006;34:186-93.
Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, et
al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration
disorder Walker-Warburg syndrome. Am J Hum Genet 2002;71:1033-43.
Bertuzzi S, Hindges R, Mui SH, O'Leary DD, Lemke G. The homeodomain protein vax1 is required for
axon guidance and major tract formation in the developing forebrain. Genes Dev 1999;13:3092-105.
Berube NG, Mangelsdorf M, Jagla M, Vanderluit J, Garrick D, Gibbons RJ, et al. The chromatinremodeling protein ATRX is critical for neuronal survival during corticogenesis. J Clin Invest
2005;115:258-67.
Bilguvar K, Ozturk AK, Louvi A, Kwan KY, Choi M, Tatli B, et al. Whole-exome sequencing identifies
recessive WDR62 mutations in severe brain malformations. Nature 2010;467:207-10.
Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, et al. ASPM is a major
determinant of cerebral cortical size. Nat Genet 2002;32:316-20.
Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, et al. Mutation of the fumarase
gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest
1994;93:2514-8.
Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, et al. MKS3/TMEM67
mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver
involvement. Hum Mutat 2009;30:E432-42.
Brugha R, Kinali M, Aminu K, Bridges N, Holder SE. Genitopatellar syndrome: a further case. Clin
Dysmorphol 2011;20:163-5.
Cacheux V, Dastot-Le Moal F, Kaariainen H, Bondurand N, Rintala R, Boissier B, et al. Loss-of-function
mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Hum Mol
Genet 2001;10:1503-10.
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, et al. Recessive mutations in EPG5
cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet 2013;45:83-7.
Campbell CE, Piper M, Plachez C, Yeh YT, Baizer JS, Osinski JM, et al. The transcription factor Nfix is
essential for normal brain development. BMC Dev Biol 2008;8:52.
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, et al. Mutations in
KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet
2012;90:282-9.
Capovilla G, Lorenzetti ME, Montagnini A, Borgatti R, Piccinelli P, Giordano L, et al. Seckel's syndrome
and malformations of cortical development: report of three new cases and review of the literature. J
Child Neurol 2001;16:382-6.
Chan AK, Levin AV, Teebi AS. Craniofacial dysmorphism, agenesis of the corpus callosum and ocular
colobomas: Temtamy syndrome? Clin Dysmorphol 2000;9:223-6.
Chiyonobu T, Yoshihara T, Fukushima Y, Yamamoto Y, Tsunamoto K, Nishimura Y, et al. Sister and
brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. Am J
Med Genet 2002;109:61-6.
Chou A, Boerkoel C, du Souich C, Rupps R. Phenotypic and molecular characterization of a novel DCX
deletion and a review of the literature. Clin Genet 2009;76:214-8.
Connacher AA, Forsyth CC, Stewart WK. Orofaciodigital syndrome type I associated with polycystic
kidneys and agenesis of the corpus callosum. J Med Genet 1987;24:116-8.
Conway CD, Howe KM, Nettleton NK, Price DJ, Mason JO, Pratt T. Heparan sulfate sugar modifications
mediate the functions of slits and other factors needed for mouse forebrain commissure
development. J Neurosci 2011;31:1955-70.
Cormier-Daire V, Chauvet ML, Lyonnet S, Briard ML, Munnich A, Le Merrer M. Genitopatellar
syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial
dysmorphism, and mental retardation. J Med Genet 2000;37:520-4.
Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, et al. Mutations in
KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest
2011;121:2662-7.
Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M. ZFHX1B mutations in patients
with Mowat-Wilson syndrome. Hum Mutat 2007;28:313-21.
Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL, et al. Mutations
in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat
Genet 1998;19:125-33.
Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, et al. Variable phenotype in Greig
cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3
sporadic cases with identified GLI3 mutations. Am J Med Genet A 2003;120A:49-58.
del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A, Roche C, et al. Albinism and agenesis of the
corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal
recessive inheritance. Am J Med Genet 1999;85:479-85.
Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, et al. The ciliary gene RPGRIP1L is
mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat
Genet 2007;39:875-81.
Demyanenko GP, Tsai AY, Maness PF. Abnormalities in neuronal process extension, hippocampal
development, and the ventricular system of L1 knockout mice. J Neurosci 1999;19:4907-20.
des Portes V, Francis F, Pinard JM, Desguerre I, Moutard ML, Snoeck I, et al. doublecortin is the major
gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet 1998a;7:1063-70.
des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrie A, et al. A novel CNS gene required
for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly
syndrome. Cell 1998b;92:51-61.
Diaz-Horta O, Sirmaci A, Doherty D, Nance W, Arnos K, Pandya A, et al. GPSM2 mutations in ChudleyMcCullough syndrome. Am J Med Genet A 2012;158A:2972-3.
Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, et al. Diagnostic criteria for
Walker-Warburg syndrome. Am J Med Genet 1989;32:195-210.
Dode C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, et al. Kallmann syndrome:
mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet
2006;2:e175.
Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, et al. GPSM2 mutations cause the
brain malformations and hearing loss in Chudley-McCullough syndrome. Am J Hum Genet
2012;90:1088-93.
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, et al. Mutations in 3 genes
(MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic
fibrosis). J Med Genet 2010;47:8-21.
Driller K, Pagenstecher A, Uhl M, Omran H, Berlis A, Grunder A, et al. Nuclear factor I X deficiency
causes brain malformation and severe skeletal defects. Mol Cell Biol 2007;27:3855-67.
Dupre N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard JP, et al. Hereditary motor and
sensory neuropathy with agenesis of the corpus callosum. Ann Neurol 2003;54:9-18.
Elson E, Perveen R, Donnai D, Wall S, Black GC. De novo GLI3 mutation in acrocallosal syndrome:
broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet
2002;39:804-6.
Fierro M, Martinez AJ, Harbison JW, Hay SH. Smith-Lemli-Opitz syndrome: neuropathological and
ophthalmological observations. Dev Med Child Neurol 1977;19:57-62.
Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, et al. Mutations in the
Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci
USA 1998;95:8181-6.
FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, et al. Clinical phenotype of
desmosterolosis. Am J Med Genet 1998;75:145-52.
Fontanella B, Russolillo G, Meroni G. MID1 mutations in patients with X-linked Opitz G/BBB
syndrome. Hum Mutat 2008;29:584-94.
Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, et al. Mutations in filamin 1 prevent
migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998;21:131525.
Friocourt G, Kanatani S, Tabata H, Yozu M, Takahashi T, Antypa M, et al. Cell-autonomous roles of ARX
in cell proliferation and neuronal migration during corticogenesis. J Neurosci 2008;28:5794-805.
Garcia CA, McGarry PA, Voirol M, Duncan C. Neurological involvement in the Smith-Lemli-Opitz
syndrome: clinical and neuropathological findings. Dev Med Child Neurol 1973;15:48-55.
Gibbons RJ, Brueton L, Buckle VJ, Burn J, Clayton-Smith J, Davison BC, et al. Clinical and hematologic
aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet
1995a;55:288-99.
Gibbons RJ, Higgs DR. Molecular-clinical spectrum of the ATR-X syndrome. [Review]. Am J Med Genet
2000;97:204-12.
Gibbons RJ, Picketts DJ, Villard L, Higgs DR. Mutations in a putative global transcriptional regulator
cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 1995b;80:837-45.
Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, et al. Doublecortin, a brain-specific
gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative
signaling protein. Cell 1998;92:63-72.
Goldblatt J, Wallis C, Zieff S. A syndrome of hypoplastic patellae, mental retardation, skeletal and
genitourinary anomalies with normal chromosomes. Dysmorph Clin Genet 1988;2:91-3.
Graham JM, Jr., Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM. Clinical and behavioral
characteristics in FG syndrome. Am J Med Genet 1999;85:470-5.
Graham JM, Jr., Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, et al. Behavior of 10 patients
with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. Am J
Med Genet A 2008;146A:3011-7.
Graham JM, Jr., Wheeler P, Tackels-Horne D, Lin AE, Hall BD, May M, et al. A new X-linked syndrome
with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in
the Alpha 4 gene at Xq13. Am J Med Genet A 2003;123A:37-44.
Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG. Long-term survival in TARP
syndrome and confirmation of RBM10 as the disease-causing gene. Am J Med Genet A
2011;155A:2516-20.
Hootnick D, Holmes LB. Familial polysyndactyly and craniofacial anomalies. Clin Genet 1972;3:12834.
Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, et al. The K-Cl cotransporter KCC3 is
mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat
Genet 2002;32:384-92.
Huffman KJ, Garel S, Rubenstein JL. Fgf8 regulates the development of intra-neocortical projections. J
Neurosci 2004;24:8917-23.
Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, et al. Mutations in the beta-tubulin
gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet 2009;41:746-52.
Jeret JS, Serur D, Wisniewski KE, Lubin RA. Clinicopathological findings associated with agenesis of
the corpus callosum. Brain Dev 1987;9:255-64.
Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK, Chong K, et al. Massively parallel sequencing
of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft
palate. Am J Hum Genet 2010;86:743-8.
Jones L, Lopez-Bendito G, Gruss P, Stoykova A, Molnar Z. Pax6 is required for the normal
development of the forebrain axonal connections. Development 2002;129:5041-52.
Judas M, Sedmak G, Rados M, Sarnavka V, Fumic K, Willer T, et al. POMT1-associated walker-warburg
syndrome: a disorder of dendritic development of neocortical neurons. Neuropediatrics 2009;40:614.
Juric-Sekhar G, Kapur RP, Glass IA, Murray ML, Parnell SE, Hevner RF. Neuronal migration disorders in
microcephalic osteodysplastic primordial dwarfism type I/III. Acta neuropathol 2011;121:545-54.
Kakita A, Hayashi S, Moro F, Guerrini R, Ozawa T, Ono K, et al. Bilateral periventricular nodular
heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and
dysplastic cytoarchitecture in the cerebral cortex. Acta neuropathol 2002;104:649-57.
Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, et al. Point mutations
throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet
1999;8:1769-77.
Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, et al. Mutations in LRP2, which encodes
the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Nat Genet 2007;39:957-9.
Kara S, Jissendi-Tchofo P, Barkovich AJ. Developmental differences of the major forebrain
commissures in lissencephalies. AJNR Am J Neuroradiol 2010;31:1602-7.
Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, et al. Mutations of ARX are associated
with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat 2004;23:147-59.
Kelberman D, Dattani MT. Septo-optic dysplasia - novel insights into the aetiology. [Review]. Horm
Res 2008;69:257-65.
Kerrigan JF, Aleck KA, Tarby TJ, Bird CR, Heidenreich RA. Fumaric aciduria: clinical and imaging
features. Ann Neurol 2000;47:583-8.
Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, et al. Mutation of ARX
causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with
abnormal genitalia in humans. Nat Genet 2002;32:359-69.
Koizumi H, Higginbotham H, Poon T, Tanaka T, Brinkman BC, Gleeson JG. Doublecortin maintains
bipolar shape and nuclear translocation during migration in the adult forebrain. Nat Neurosci
2006a;9:779-86.
Koizumi H, Tanaka T, Gleeson JG. Doublecortin-like kinase functions with doublecortin to mediate
fiber tract decussation and neuronal migration. Neuron 2006b;49:55-66.
Kortum F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, et al. The core FOXG1
syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent
language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 2011;48:396-406.
Larbrisseau A, Vanasse M, Brochu P, Jasmin G. The Andermann syndrome: agenesis of the corpus
callosum associated with mental retardation and progressive sensorimotor neuronopathy. The Can J
Neurol Sci 1984;11:257-61.
Lerma-Carrillo I, Molina JD, Cuevas-Duran T, Julve-Correcher C, Espejo-Saavedra JM, Andrade-Rosa C,
et al. Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. Am J Med
Genet A 2006;140:2807-11.
Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, et al. Agenesis of the corpus
callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal
recessive disorder similar to Temtamy syndrome. Am J Med Genet A 2007;143A:1900-5.
Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, et al. Distinct effects of allelic NFIX
mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith
syndrome. Am J Hum Genet 2010;87:189-98.
Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, et al. Loss-of-function of an Nacetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. Biochem Biophys Res
Commun 2003;306:93-7.
Marafie MJ, Temtamy SA, Rajaram U, al-Awadi SA, el-Badramany MH, Farag TI. Greig
cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. Am J
Med Genet 1996;66:261-4.
McClelland V, Cullup T, Bodi I, Ruddy D, Buj-Bello A, Biancalana V, et al. Vici syndrome associated with
sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. Am J Med
Genet A 2010;152A:741-7.
Mee L, Honkala H, Kopra O, Vesa J, Finnila S, Visapaa I, et al. Hydrolethalus syndrome is caused by a
missense mutation in a novel gene HYLS1. Hum Mol Genet 2005;14:1475-88.
Miquelajauregui A, Van de Putte T, Polyakov A, Nityanandam A, Boppana S, Seuntjens E, et al. Smadinteracting protein-1 (Zfhx1b) acts upstream of Wnt signaling in the mouse hippocampus and
controls its formation. Proc Natl Acad Sci USA 2007;104:12919-24.
Miyata R, Hayashi M, Sato H, Sugawara Y, Yui T, Araki S, et al. Sibling cases of Vici syndrome: sleep
abnormalities and complications of renal tubular acidosis. Am J Med Genet A 2007;143:189-94.
Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. Metabolic cutis laxa
syndromes. [Review] J Inherit Metab Dis 2011;34:907-16.
Mowat DR, Wilson MJ, Goossens M. Mowat-Wilson syndrome. [Review]. J Med Genet 2003;40:30510.
Murga M, Bunting S, Montana MF, Soria R, Mulero F, Canamero M, et al. A mouse model of ATRSeckel shows embryonic replicative stress and accelerated aging. Nat Genet 2009;41:891-8.
Nadkarni TD, Menon RK, Shah AH, Goel A. Chudley McCullough syndrome. Childs Nerv Syst
2008;24:541-4.
Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, et al. Genetic and functional
analyses identify DISC1 as a novel callosal agenesis candidate gene. Am J Med Genet A
2011;155A:1865-76.
Paetau A, Honkala H, Salonen R, Ignatius J, Kestila M, Herva R. Hydrolethalus syndrome:
neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. J Neuropathol Exp Neurol
2008;67:750-62.
Paetau A, Salonen R, Haltia M. Brain pathology in the Meckel syndrome: a study of 59 cases. Clin
Neuropathol 1985;4:56-62.
Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, et al. Expanding the clinical
and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology
2009;73:962-9.
Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. The spectrum of pyruvate
dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol
Genet Metab 2012;106:385-94.
Penttinen M, Koillinen H, Niinikoski H, Makitie O, Hietala M. Genitopatellar syndrome in an
adolescent female with severe osteoporosis and endocrine abnormalities. Am J Med Genet A
2009;149A:451-5.
Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, et al. Rubinstein-Taybi syndrome
caused by mutations in the transcriptional co-activator CBP. Nature 1995;376:348-51.
Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, et al. Large spectrum of lissencephaly
and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A
(TUBA1A). Hum Mutat 2007;28:1055-64.
Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, et al. Mutations in the
neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal
migration defects. Hum Mol Genet 2010;19:4462-73.
Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of
neuroimaging findings in 75 patients. AJNR Am J Neuroradiol 2011;32:1459-63.
Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, et al. Periventricular nodular
heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. Pediatr Radiol
2000;30:748-55.
Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, et al. Loss of holocytochrome c-type
synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects
(MLS) syndrome. Hum Mol Genet 2002;11:3237-48.
Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, et al. Novel KIF7
mutations extend the phenotypic spectrum of acrocallosal syndrome. J Med Genet 2012;49:713-20.
Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, et al. KIF7 mutations cause fetal
hydrolethalus and acrocallosal syndromes. Nat Genet 2011;43:601-6.
Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson CB, Mulliken JB, et al. Intracranial
anomalies detected by imaging studies in 30 patients with Apert syndrome. Am J Med Genet A
2006;140:1337-8.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. Mutations in PYCR1
cause cutis laxa with progeroid features. Nat Genet 2009;41:1016-21.
Risheg H, Graham JM, Jr., Clark RD, Rogers RC, Opitz JM, Moeschler JB, et al. A recurrent mutation in
MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet 2007;39:451-3.
Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, et al. Genetic heterogeneity in
Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum
Genet 2005;76:572-80.
Rogers RC, Aufmuth B, Monesson S. Vici syndrome: a rare autosomal recessive syndrome with brain
anomalies, cardiomyopathy, and severe intellectual disability. Case Rep Genet 2011;2011:421582.
Romaniello R, Tonelli A, Arrigoni F, Baschirotto C, Triulzi F, Bresolin N, et al. A novel mutation in the
beta-tubulin gene TUBB2B associated with complex malformation of cortical development and
deficits in axonal guidance. Dev Med Child Neurol 2012;54:765-9.
Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R. A novel mutation in MED12
causes FG syndrome (Opitz-Kaveggia syndrome). Clin Genet 2011;79:183-8.
Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, et al. Mutations in SWI/SNF chromatin
remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet 2012;44:379-80.
Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, et al. Desmosterolosis-phenotypic
and molecular characterization of a third case and review of the literature. Am J Med Genet A
2011;155A:1597-604.
Schaefer GB, Bodensteiner JB, Buehler BA, Lin A, Cole TR. The neuroimaging findings in Sotos
syndrome. Am J Med Genet 1997;68:462-5.
Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'Avanzo M G, et al. The Coffin-Siris
syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med
Genet A 2012;158A:1865-76.
Shanske A, Caride DG, Menasse-Palmer L, Bogdanow A, Marion RW. Central nervous system
anomalies in Seckel syndrome: report of a new family and review of the literature. Am J Med Genet
1997;70:155-8.
Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SL. Microphthalmia with linear
skin defects: a case report and review. Pediatr Dermatol 2008;25:548-52.
Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, et al. Phenotype and
natural history in Marshall-Smith syndrome. Am J Med Genet A 2010;152A:2714-26.
Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, et al. Mutations in the X-linked filamin 1
gene cause periventricular nodular heterotopia in males as well as in females Hum Mol Genet.
2001;10:1775-83.
Shekarabi M, Moldrich RX, Rasheed S, Salin-Cantegrel A, Laganiere J, Rochefort D, et al. Loss of
neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in
a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of
the corpus callosum. J Neurosci 2012;32:3865-76.
Shen S, Lang B, Nakamoto C, Zhang F, Pu J, Kuan SL, et al. Schizophrenia-related neural and
behavioral phenotypes in transgenic mice expressing truncated Disc1. J Neurosci 2008;28:10893-904.
Slaney SF, Oldridge M, Hurst JA, Moriss-Kay GM, Hall CM, Poole MD, et al. Differential effects of
FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 1996;58:92332.
Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, et al. VAX1 mutation associated
with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1
phenotype in humans. Hum Mutat 2012;33:364-8.
Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, et al. The transmembrane protein
meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet 2006a;38:191-6.
Smith KM, Ohkubo Y, Maragnoli ME, Rasin MR, Schwartz ML, Sestan N, et al. Midline radial glia
translocation and corpus callosum formation require FGF signaling. Nat Neurosci 2006b;9:787-97.
Soekarman D, Fryns JP. Hypohidrotic ectodermal dysplasia, central nervous system malformation,
and distinct facial features: confirmation of a distinct entity? J Med Genet 1993;30:245-7.
Southgate L, Dafou D, Hoyle J, Li N, Kinning E, Critchley P, et al. Novel SPG11 mutations in Asian
kindreds and disruption of spatacsin function in the zebrafish. Neurogenetics 2010;11:379-89.
Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, et al. Mutations in SPG11 are
frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and
lower motor neuron degeneration. Brain 2008;131:772-84.
Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, et al. Mutations in SPG11,
encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet
2007;39:366-72.
Stevens HE, Smith KM, Maragnoli ME, Fagel D, Borok E, Shanabrough M, et al. Fgfr2 is required for
the development of the medial prefrontal cortex and its connections with limbic circuits. J Neurosci
2010;30:5590-602.
Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, et al. Mutations in the
human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet
2002;30:441-5.
Talisetti A, Forrester SR, Gregory D, Johnson L, Schneider MC, Kimonis VE. Temtamy-like syndrome
associated with translocation of 2p24 and 9q32. Clin Dysmorphol 2003;12:175-7.
Temtamy SA, Salam MA, Aboul-Ezz EH, Hussein HA, Helmy SA, Shalash BA. New autosomal recessive
multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism
absent corpus callosum, iris colobomas and connective tissue dysplasia. Clin Dysmorphol
1996;5:231-40.
Temtamy SA, Sinbawy AH. Cataract, hypertrichosis, and mental retardation (CAHMR): a new
autosomal recessive syndrome. Am J Med Genet 1991;41:432-3.
Thapa R, Mukherjee K. Seckel syndrome with asymptomatic tonsillar herniation and congenital
mirror movements. J Child Neurol. 2010;25:231-3.
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, et al. Human TUBB3 mutations
perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 2010;140:74-87.
Tole S, Gutin G, Bhatnagar L, Remedios R, Hebert JM. Development of midline cell types and
commissural axon tracts requires Fgfr1 in the cerebrum. Dev Biol 2006;289:141-51.
Towfighi J, Berlin CM, Jr., Ladda RL, Frauenhoffer EE, Lehman RA. Neuropathology of oral-facial-digital
syndromes. Arch Pathol Lab Med 1985;109:642-6.
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, et al. Mutations affecting components of
the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet 2012;44:376-8.
Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, et al. Mutations of ephrin-B1
(EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad
Sci USA 2004;101:8652-7.
Unger S, Mainberger A, Spitz C, Bahr A, Zeschnigk C, Zabel B, et al. Filamin A mutation is one cause of
FG syndrome. Am J Med Genet A 2007;143A:1876-9.
van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, et al.
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J
Med Genet 2005;42:907-12.
Vici CD, Sabetta G, Gambarara M, Vigevano F, Bertini E, Boldrini R, et al. Agenesis of the corpus
callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.
Am J Med Genet 1988;29:1-8.
Villanova M, Sabatelli P, He Y, Malandrini A, Petrini S, Maraldi NM, et al. Immunofluorescence study
of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome. Acta neuropathol
1998;96:651-4.
Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, et al. Splicing mutation in the ATR-X
gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia. Am J Hum
Genet 1996;58:499-505.
Wang H, Ge G, Uchida Y, Luu B, Ahn S. Gli3 is required for maintenance and fate specification of
cortical progenitors. J Neurosci 2011;31:6440-8.
Whalen S, Heron D, Gaillon T, Moldovan O, Rossi M, Devillard F, et al. Novel comprehensive
diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4
mutational spectrum. Hum Mutat 2012;33:64-72.
Wieacker P, Wieland I. Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving
a genetic paradox. [Review]. Mol Genet Metab 2005;86:110-6.
Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, et al. Mutations of the ephrin-B1
gene cause craniofrontonasal syndrome. Am J Hum Genet 2004;74:1209-15.
Wieland I, Reardon W, Jakubiczka S, Franco B, Kress W, Vincent-Delorme C, et al. Twenty-six novel
EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Hum Mutat
2005;26:113-8.
Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, Konig R, Grzeschik KH. Point mutations in human
GLI3 cause Greig syndrome. Hum Mol Genet 1997;6:1979-84.
Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, et al. Apert syndrome results
from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995;9:165-72.
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, et al. ISPD loss-offunction mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat
Genet 2012;44:575-80.
Willnow TE, Hilpert J, Armstrong SA, Rohlmann A, Hammer RE, Burns DK, et al. Defective forebrain
development in mice lacking gp330/megalin. Proc Natl Acad Sci USA 1996;93(16):8460-4.
Wojcik C, Volz K, Ranola M, Kitch K, Karim T, O'Neil J, et al. Rubinstein-Taybi syndrome associated
with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene
syndrome? Am J Med Genet A 2010;152A(2):479-83.
Ye P, Li L, Lund PK, D'Ercole AJ. Deficient expression of insulin receptor substrate-1 (IRS-1) fails to
block insulin-like growth factor-I (IGF-I) stimulation of brain growth and myelination. Brain Res Dev
Brain Res 2002;136(2):111-21.
Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, et al. Mutations in WDR62,
encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal
cortical architecture. Nat Genet 2010;42(11):1015-20.
Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, et al. The desmosterolosis
phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of
white matter. Eur J Hum Genet 2011;19(9):942-6.